Category: Metabolic disorders

Although the human body can produce several grams of inositol daily, this natural synthesis is not always enough to prevent a deficiency. A combination of dietary habits, altered metabolic states, and other factors can disrupt the delicate balance, leading to a suboptimal supply of this vital nutrient.

According to the National Institutes of Health, amino acid metabolism disorders affect 1 in 2,500 births collectively. A condition where you can't process protein is often called an amino acid metabolism disorder or an inborn error of metabolism. These are genetic conditions in which a specific enzyme is either missing or malfunctioning, disrupting the body's ability to break down certain amino acids, the building blocks of protein.

Mitochondrial disease can lead to profound energy deficits, making diet a critical component of management. The specific diet for mitochondrial complex 1 deficiency focuses on providing alternative fuel sources, optimizing nutrient cofactors, and avoiding metabolic stress.

An extremely rare autosomal recessive metabolic disorder, dimethylglycine dehydrogenase (DMGDH) deficiency, is the true medical condition behind what is colloquially known as dimethylglycine deficiency. The key characteristic is not a simple nutritional shortfall, but a genetic inability to properly process the amino acid derivative N,N-dimethylglycine (DMG), leading to specific, identifiable symptoms.

Approximately 26% of hospital admissions and up to 88% of intensive care unit patients experience hypocalcemia, a condition where blood calcium levels are too low. This common electrolyte abnormality can be triggered by a wide array of underlying medical issues, medications, and deficiencies, requiring careful investigation to identify the root cause.

According to the National Institutes of Health, phenylketonuria (PKU) affects approximately 1 in 25,000 newborns in the United States, making dietary management crucial. For individuals with this genetic disorder, tyrosine—normally a non-essential amino acid—becomes conditionally essential due to an impaired metabolic pathway.

According to the National Institutes of Health, vitamin D deficiency can cause an elevation in alkaline phosphatase (ALP) levels due to its profound effects on bone metabolism and the development of secondary hyperparathyroidism. This elevation is a key diagnostic indicator that reflects the body's struggle to maintain mineral balance in the absence of sufficient vitamin D.

The first successful dietary treatment for phenylketonuria (PKU) was developed in 1951, forever changing the prognosis for children born with this rare genetic disorder. The classical PKU diet is a strict, low-phenylalanine regimen that, when implemented shortly after birth, is crucial for preventing severe intellectual disability and other neurological complications. It remains the foundation of therapy for many individuals with PKU.

Refeeding syndrome, first described in prisoners of war, is a potentially fatal shift in fluids and electrolytes that can occur in severely malnourished patients receiving artificial refeeding. These dangerous shifts can have severe complications for the heart, lungs, and brain.

Refeeding syndrome was first documented following World War II, when prisoners of war experienced adverse and often fatal complications upon receiving nutritional support after prolonged starvation. This metabolic condition manifests through a series of electrolyte and fluid shifts that can severely impact organ function.